空卵泡症候群 (EFS) ------ 一種罕見的體外受精併發症，指在取卵過程中未取出卵子。

ZP3 基因中一種新的雜合突變 (p.Ser173Cys, c.518C > G)----與空卵泡綜合症相關

Empty follicle syndrome (EFS) ------ a rare IVF complication where no eggs are retrieved during an egg collection procedure,

Novel heterozygous mutation (p.Ser173Cys, c.518C > G) in the ZP3 gene

----associated with EFS

A novel mutation in ZP3 causes empty follicle syndrome and abnormal zona pellucida formation

• Genetics
• Published: 02 November 2020

• Volume 38, pages 251–259 (2021)
• Cite this article

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Journal of Assisted Reproduction and GeneticsAims and scopeSubmit manuscript

Purpose

To identify disease-causing genes involved in female infertility.

Methods

Whole-exome sequencing and Sanger DNA sequencing were used to identify the mutations in disease-causing genes. We performed subcellular protein localization, western immunoblotting analysis, and co-immunoprecipitation analysis to evaluate the effects of the mutation.

Results

We investigated 17 families with female infertility. Whole-exome and Sanger DNA sequencing were used to characterize the disease gene in the patients, and we identified a novel heterozygous mutation (p.Ser173Cys, c.518C > G) in the ZP3 gene in a patient with empty follicle syndrome. When we performed co-immunoprecipitation analysis, we found that the S173C mutation affected interactions between ZP3 and ZP2.

Conclusions

We identified a novel mutation in the ZP3 gene in a Chinese family with female infertility. Our findings thus expand the mutational and phenotypical spectrum of the ZP3 gene, and they will be helpful in precisely diagnosing this aspect of female infertility.